A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061246



Internal ID18803777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46608843..46654452hg38UCSC Ensembl
Innerchr21:48028756..48074364hg19UCSC Ensembl
Innerchr21:46853184..46898792hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3845610
hg1945609
hg1845609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4446n100
Supporting Variantsnssv3733464
Samples
Known GenesPRMT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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